Variant report

Variant	nsv517187
Chromosome Location	chr5:36452471-36460462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36433442..36435493-chr5:36455039..36456735,2	K562	blood:
2	chr5:36457469..36459383-chr5:36460695..36462337,2	MCF-7	breast:

Extended variants
information (count: 352 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10058564	chr5:36452471-36452472	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538986269	chr5:36452482-36452483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148299463	chr5:36452531-36452532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572358669	chr5:36452565-36452566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566306923	chr5:36452574-36452575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535297673	chr5:36452601-36452602	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555230984	chr5:36452618-36452619	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10085047	chr5:36452684-36452685	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554736434	chr5:36452703-36452704	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs141344694	chr5:36452789-36452790	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs16903050	chr5:36452799-36452800	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs563190627	chr5:36452816-36452817	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs2468511	chr5:36452825-36452826	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs568746950	chr5:36452827-36452828	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs565284448	chr5:36452869-36452870	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs386687232	chr5:36452959-36452960	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs10085102	chr5:36452960-36452961	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs187857957	chr5:36453011-36453012	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs73089611	chr5:36453012-36453013	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150808761	chr5:36453031-36453032	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs192936452	chr5:36453034-36453035	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550250221	chr5:36453054-36453055	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570121970	chr5:36453088-36453089	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs375988880	chr5:36453106-36453107	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs539072489	chr5:36453118-36453119	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183597398	chr5:36453123-36453124	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs77684316	chr5:36453162-36453163	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566016500	chr5:36453206-36453207	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs377002066	chr5:36453220-36453221	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs371175763	chr5:36453232-36453233	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs112873766	chr5:36453236-36453237	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs554541379	chr5:36453239-36453240	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs574579793	chr5:36453269-36453270	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs73089613	chr5:36453274-36453275	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577630125	chr5:36453276-36453277	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs191579100	chr5:36453288-36453289	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs139647383	chr5:36453305-36453306	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs28505610	chr5:36453320-36453321	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs35906596	chr5:36453341-36453342	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs74319379	chr5:36453345-36453346	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs73089614	chr5:36453376-36453377	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184840262	chr5:36453377-36453378	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs561374477	chr5:36453387-36453388	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs565024284	chr5:36453417-36453418	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs28523559	chr5:36453433-36453434	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149694764	chr5:36453477-36453478	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs28647761	chr5:36453478-36453479	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145460412	chr5:36453530-36453531	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs17286376	chr5:36453541-36453542	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566103562	chr5:36453552-36453553	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21147910	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36445800-36462800	Weak transcription	Esophagus	oesophagus
2	chr5:36448000-36452600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:36448000-36453800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:36449200-36452800	Enhancers	HMEC	breast
5	chr5:36449800-36453800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:36450200-36453600	Enhancers	Hela-S3	cervix
7	chr5:36450400-36452800	Enhancers	HSMM	muscle
8	chr5:36450600-36456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:36451200-36452600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:36451200-36452600	Enhancers	NHEK	skin
11	chr5:36451800-36457600	Weak transcription	HSMMtube	muscle
12	chr5:36452000-36453600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:36452000-36457400	Weak transcription	Osteobl	bone
14	chr5:36452200-36452600	Weak transcription	Brain Anterior Caudate	brain
15	chr5:36452200-36453200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:36452400-36452800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:36452400-36452800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:36452400-36453000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:36452400-36453200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:36452400-36453200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:36452400-36453200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:36452400-36453400	Enhancers	Placenta	Placenta
23	chr5:36452600-36453000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr5:36452600-36453000	Enhancers	Brain Anterior Caudate	brain
25	chr5:36452600-36453200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:36452600-36453200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:36452600-36453800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:36452600-36453800	Flanking Active TSS	NHEK	skin
29	chr5:36452800-36453200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:36452800-36453200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:36452800-36453200	Flanking Active TSS	HMEC	breast
32	chr5:36452800-36456800	Weak transcription	HSMM	muscle
33	chr5:36453200-36453400	Enhancers	HMEC	breast
34	chr5:36453200-36455600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:36453200-36455600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:36453400-36453600	Flanking Active TSS	HMEC	breast
37	chr5:36453400-36459000	Weak transcription	Placenta	Placenta
38	chr5:36453600-36455400	Enhancers	HMEC	breast
39	chr5:36453800-36455000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:36453800-36455400	Enhancers	NHEK	skin
41	chr5:36453800-36457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:36453800-36457400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:36455000-36455400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr5:36455000-36455400	Bivalent Enhancer	K562	blood
45	chr5:36455400-36456800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:36455400-36456800	Weak transcription	HMEC	breast
47	chr5:36455400-36457400	Weak transcription	NHEK	skin
48	chr5:36455600-36457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:36455600-36457600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:36456600-36457000	Weak transcription	Hela-S3	cervix

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